Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency

Description

Hereditary thrombophilia due to congenital antithrombin deficiency is a rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).

Genes related to Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency

Clinical Features

Top most frequent phenotypes and symptoms related to Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency

Venous thrombosis

Thromboembolism

Pulmonary embolism

Deep venous thrombosis

Hypercoagulability

Thrombophlebitis

Reduced antithrombin III activity

Cerebral venous thrombosis

Recurrent deep vein thrombosis

Recurrent thrombophlebitis

And another 2 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

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Not enough data available about incidence and published cases. — No data available about the known clinical features onset.

Alternative names

Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency Is also known as thph7, thrombophilia due to antithrombin iii deficiency, hereditary thrombophilia due to congenital antithrombin 3 deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Mendelian tool does not provide medical advice. It is intended for informational purposes only. It is not a substitute for professional medical advice, diagnosis or treatment. It does not diagnose, it produces a ranked list of suspected genes which provide assistance for rare hereditary disease cases. Patients should discuss their findings with their healthcare provider. MendelTest does not intend to diagnose patients. It is providing information in order for patients to find and get better management of expert certified clinical assistance. This service is using Human Phenotype Ontology (Build #1700 - Oct 2017). Find out more at www.human-phenotype-ontology.org.

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